Cell,
Год журнала:
2024,
Номер
187(14), С. 3541 - 3562.e51
Опубликована: Июль 1, 2024
Analyses
of
ancient
DNA
typically
involve
sequencing
the
surviving
short
oligonucleotides
and
aligning
to
genome
assemblies
from
related,
modern
species.
Here,
we
report
that
skin
a
female
woolly
mammoth
(†Mammuthus
primigenius)
died
52,000
years
ago
retained
its
architecture.
We
use
PaleoHi-C
map
chromatin
contacts
assemble
genome,
yielding
28
chromosome-length
scaffolds.
Chromosome
territories,
compartments,
loops,
Barr
bodies,
inactive
X
chromosome
(Xi)
superdomains
persist.
The
active
compartments
in
more
closely
resemble
Asian
elephant
than
other
tissues.
Our
analyses
uncover
new
biology.
Differences
compartmentalization
reveal
genes
whose
transcription
was
potentially
altered
mammoths
vs.
elephants.
Mammoth
Xi
has
tetradic
architecture,
not
bipartite
like
human
mouse.
hypothesize
that,
shortly
after
this
mammoth's
death,
sample
spontaneously
freeze-dried
Siberian
cold,
leading
glass
transition
preserved
subfossils
chromosomes
at
nanometer
scale.
Science,
Год журнала:
2021,
Номер
372(6545), С. 984 - 989
Опубликована: Май 27, 2021
We
investigated
genome
folding
across
the
eukaryotic
tree
of
life.
find
two
types
three-dimensional
(3D)
architectures
at
chromosome
scale.
Each
type
appears
and
disappears
repeatedly
during
evolution.
The
architecture
that
an
organism
exhibits
correlates
with
absence
condensin
II
subunits.
Moreover,
depletion
converts
human
to
a
state
resembling
seen
in
organisms
such
as
fungi
or
mosquitoes.
In
this
state,
centromeres
cluster
together
nucleoli,
heterochromatin
domains
merge.
propose
physical
model
which
lengthwise
compaction
chromosomes
by
mitosis
determines
chromosome-scale
architecture,
effects
are
retained
subsequent
interphase.
This
mechanism
likely
has
been
conserved
since
last
common
ancestor
all
eukaryotes.
Proceedings of the National Academy of Sciences,
Год журнала:
2021,
Номер
118(52)
Опубликована: Дек. 3, 2021
In
less
than
25
y,
the
field
of
animal
genome
science
has
transformed
from
a
discipline
seeking
its
first
glimpses
into
sequences
across
Tree
Life
to
global
enterprise
with
ambitions
sequence
genomes
for
all
Earth’s
eukaryotic
diversity
[H.
A.
Lewin
et
al.
,
Proc.
Natl.
Acad.
Sci.
U.S.A.
115,
4325–4333
(2018)].
As
rapidly
moves
forward,
it
is
important
take
stock
progress
that
been
made
best
inform
discipline’s
future.
this
Perspective,
we
provide
contemporary,
quantitative
overview
sequencing.
We
identified
available
assemblies
in
GenBank,
world’s
most
extensive
genetic
database,
3,278
unique
species
24
phyla.
assessed
taxonomic
representation,
assembly
quality,
and
annotation
status
major
clades.
show
while
tremendous
occurred,
stark
disparities
genomic
representation
exist,
highlighted
by
systemic
overrepresentation
vertebrates
underrepresentation
arthropods.
terms
long-read
sequencing
dramatically
improved
contiguity,
whereas
gene
annotations
are
just
34.3%
taxa.
Furthermore,
diversified
recent
years
an
ever-expanding
pool
researchers
participating.
However,
still
appears
be
dominated
institutions
Global
North,
which
have
listed
as
submitting
institution
77%
assemblies.
conclude
offering
recommendations
improving
resource
availability
research
value
also
broadening
representation.
Proceedings of the National Academy of Sciences,
Год журнала:
2022,
Номер
119(4)
Опубликована: Янв. 18, 2022
Life
on
Earth
has
evolved
from
initial
simplicity
to
the
astounding
complexity
we
experience
today.
Bacteria
and
archaea
have
largely
excelled
in
metabolic
diversification,
but
eukaryotes
additionally
display
abundant
morphological
innovation.
How
these
innovations
come
about
what
constraints
are
there
origins
of
novelty
continuing
maintenance
biodiversity
Earth?
The
history
life
code
for
working
parts
cells
systems
written
genome.
BioGenome
Project
proposed
that
genomes
all
extant,
named
eukaryotes—about
2
million
species—should
be
sequenced
high
quality
produce
a
digital
library
Earth,
beginning
with
strategic
phylogenetic,
ecological,
high-impact
priorities.
Here
discuss
why
should
sequence
eukaryotic
species,
not
just
representative
few
scattered
across
many
branches
tree
life.
We
suggest
questions
evolutionary
ecological
significance
will
only
addressable
when
whole-genome
data
representing
divergences
at
branchings
or
species
natural
ecosystems
available.
envisage
genomic
foster
understanding
ongoing
processes
speciation,
adaptation,
organismal
dependencies
within
entire
ecosystems.
These
explorations
resolve
long-standing
problems
phylogenetics,
evolution,
ecology,
conservation,
agriculture,
bioindustry,
medicine.
Cell,
Год журнала:
2022,
Номер
185(17), С. 3153 - 3168.e18
Опубликована: Авг. 1, 2022
The
centromere
represents
a
single
region
in
most
eukaryotic
chromosomes.
However,
several
plant
and
animal
lineages
assemble
holocentromeres
along
the
entire
chromosome
length.
Here,
we
compare
genome
organization
evolution
as
function
of
type
by
assembling
chromosome-scale
holocentric
genomes
with
repeat-based
from
three
beak-sedge
(Rhynchospora
pubera,
R.
breviuscula,
tenuis)
their
closest
monocentric
relative,
Juncus
effusus.
We
demonstrate
that
transition
to
holocentricity
affected
3D
architecture
redefining
genomic
compartments,
while
distributing
thousands
units
genome-wide.
uncover
complex
pubera
hides
its
unexpected
octoploidy
describe
marked
reduction
number
for
tenuis,
which
has
only
two
show
fusions,
facilitated
holocentromeres,
promoted
karyotype
diploidization.
Our
study
thus
sheds
light
on
important
aspects
influenced
organization.
Human
accelerated
regions
(HARs)
are
conserved
genomic
loci
that
evolved
at
an
rate
in
the
human
lineage
and
may
underlie
human-specific
traits.
We
generated
HARs
chimpanzee
with
automated
pipeline
alignment
of
241
mammalian
genomes.
Combining
deep
learning
chromatin
capture
experiments
neural
progenitor
cells,
we
discovered
a
significant
enrichment
topologically
associating
domains
containing
variants
change
three-dimensional
(3D)
genome
organization.
Differential
gene
expression
between
humans
chimpanzees
these
suggests
rewiring
regulatory
interactions
neurodevelopmental
genes.
Thus,
comparative
genomics
together
models
3D
folding
revealed
enhancer
hijacking
as
explanation
for
rapid
evolution
HARs.
bioRxiv (Cold Spring Harbor Laboratory),
Год журнала:
2023,
Номер
unknown
Опубликована: Апрель 6, 2023
Abstract
The
Encyclopedia
of
DNA
elements
(ENCODE)
project
is
a
collaborative
effort
to
create
comprehensive
catalog
functional
in
the
human
genome.
current
database
comprises
more
than
19000
genomics
experiments
across
1000
cell
lines
and
tissues
using
wide
array
experimental
techniques
study
chromatin
structure,
regulatory
transcriptional
landscape
Homo
sapiens
Mus
musculus
genomes.
All
data,
metadata,
associated
computational
analyses
created
by
ENCODE
consortium
are
submitted
Data
Coordination
Center
(DCC)
for
validation,
tracking,
storage,
distribution
community
resources
scientific
community.
has
engineered
distributed
uniform
processing
pipelines
order
promote
data
provenance
reproducibility
as
well
allow
interoperability
between
genomic
other
consortia.
files,
reference
genome
versions,
software
parameters
used
captured
available
via
Portal.
pipeline
code,
developed
Docker
Workflow
Description
Language
(WDL;
https://openwdl.org/
)
publicly
GitHub,
with
images
on
Dockerhub
(
https://hub.docker.com
),
enabling
access
diverse
range
biomedical
researchers.
maintained
DCC
can
be
installed
run
personal
computers,
local
HPC
clusters,
or
cloud
computing
environments
Cromwell.
Access
allows
small
labs
ability
use
without
institutional
compute
clusters.
Standardization
methodologies
analysis
quality
control
leads
comparable
results
from
different
collections
-
prerequisite
successful
integrative
analyses.
Database
URL:
https://www.encodeproject.org/
Nature,
Год журнала:
2023,
Номер
616(7957), С. 495 - 503
Опубликована: Апрель 12, 2023
Skates
are
cartilaginous
fish
whose
body
plan
features
enlarged
wing-like
pectoral
fins,
enabling
them
to
thrive
in
benthic
environments1,2.
However,
the
molecular
underpinnings
of
this
unique
trait
remain
unclear.
Here
we
investigate
origin
phenotypic
innovation
by
developing
little
skate
Leucoraja
erinacea
as
a
genomically
enabled
model.
Analysis
high-quality
chromosome-scale
genome
sequence
for
shows
that
it
preserves
many
ancestral
jawed
vertebrate
compared
with
other
sequenced
genomes,
including
numerous
ancient
microchromosomes.
Combining
comparisons
extensive
regulatory
datasets
fins-including
gene
expression,
chromatin
occupancy
and
three-dimensional
conformation-we
find
skate-specific
genomic
rearrangements
alter
landscape
genes
involved
planar
cell
polarity
pathway.
Functional
inhibition
signalling
resulted
reduction
anterior
fin
size,
confirming
pathway
is
major
contributor
batoid
morphology.
We
also
identified
fin-specific
enhancer
interacts
several
hoxa
genes,
consistent
redeployment
hox
expression
confirmed
its
potential
activate
transcription
using
zebrafish
reporter
assays.
Our
findings
underscore
central
role
reorganization
variation
evolution
phenotypes,
shedding
light
on
an
enigmatic
trait.
bioRxiv (Cold Spring Harbor Laboratory),
Год журнала:
2024,
Номер
unknown
Опубликована: Апрель 18, 2024
Abstract
During
mitosis,
interphase
chromatin
is
rapidly
converted
into
rod-shaped
mitotic
chromosomes.
Using
Hi-C,
imaging,
proteomics
and
polymer
modeling,
we
determine
how
the
activity
interplay
between
loop-extruding
SMC
motors
accomplishes
this
dramatic
transition.
Our
work
reveals
rules
of
engagement
for
complexes
that
are
critical
allowing
cells
to
refold
We
find
condensin
disassembles
loop
organization
by
evicting
or
displacing
extrusive
cohesin.
In
contrast,
bypasses
cohesive
cohesins,
thereby
maintaining
sister
chromatid
cohesion
while
separating
sisters.
Studies
chromosomes
formed
cohesin,
II
I
alone
in
combination
allow
us
develop
new
models
chromosome
conformation.
these
models,
loops
consecutive
not
overlapping,
implying
condensins
do
freely
pass
one
another
but
stall
upon
encountering
each
other.
The
dynamics
Hi-C
interactions
morphology
reveal
during
prophase
extruded
vivo
at
∼1-3
kb/sec
as
they
form
a
disordered
discontinuous
helical
scaffold
within
individual
chromatids.